Incidental Mutation 'IGL01300:Mynn'
ID75244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mynn
Ensembl Gene ENSMUSG00000037730
Gene Namemyoneurin
SynonymsSBBIZ1, 2810011C24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.442) question?
Stock #IGL01300
Quality Score
Status
Chromosome3
Chromosomal Location30602065-30619873 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30613606 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 485 (N485S)
Ref Sequence ENSEMBL: ENSMUSP00000041034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]
Predicted Effect probably damaging
Transcript: ENSMUST00000047502
AA Change: N485S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: N485S

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192715
AA Change: N513S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: N513S

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193736
Predicted Effect probably benign
Transcript: ENSMUST00000195396
SMART Domains Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195751
SMART Domains Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 34,099,743 D300G probably benign Het
Cacna1g T C 11: 94,433,912 H1161R probably benign Het
Col14a1 G A 15: 55,467,976 R1471Q unknown Het
Gm14496 A T 2: 182,000,960 E808V probably damaging Het
Gm1968 T C 16: 29,962,220 noncoding transcript Het
Gzmb G A 14: 56,260,196 R196C probably benign Het
Hkdc1 A G 10: 62,395,261 probably benign Het
Itgal T A 7: 127,314,118 V629E probably damaging Het
Jak2 T A 19: 29,309,683 Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 probably benign Het
Mmd T C 11: 90,249,711 M1T probably null Het
Myh6 A G 14: 54,963,091 V191A possibly damaging Het
Naa30 C T 14: 49,173,257 T214M probably damaging Het
Ncoa3 A T 2: 166,068,461 T1265S probably benign Het
Olfr118 C A 17: 37,672,887 T288K probably damaging Het
Olfr338 T C 2: 36,377,042 S89P probably benign Het
Prex1 A G 2: 166,638,407 C138R possibly damaging Het
Prom2 A T 2: 127,535,089 L535H probably benign Het
Pros1 T C 16: 62,913,811 F327L possibly damaging Het
Ros1 A G 10: 52,101,713 M1479T probably benign Het
Scn9a G A 2: 66,488,053 Q1465* probably null Het
Serpinb3b A G 1: 107,155,843 probably benign Het
Sipa1l3 G A 7: 29,399,828 Q339* probably null Het
Slc34a2 A C 5: 53,068,127 probably null Het
Smc3 T A 19: 53,641,852 probably benign Het
Tmem30a A G 9: 79,775,100 probably null Het
Trappc11 A T 8: 47,501,868 D878E probably benign Het
Trrap C T 5: 144,804,818 T1325M probably damaging Het
Ttc12 A T 9: 49,447,922 probably benign Het
Vmn1r237 T A 17: 21,314,075 I20N probably damaging Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Vmn2r74 A G 7: 85,957,206 Y311H probably benign Het
Vnn3 T A 10: 23,864,365 F189I possibly damaging Het
Other mutations in Mynn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Mynn APN 3 30607705 nonsense probably null
IGL02084:Mynn APN 3 30611615 missense probably damaging 1.00
IGL02189:Mynn APN 3 30613544 splice site probably benign
IGL02261:Mynn APN 3 30607131 missense possibly damaging 0.67
IGL02541:Mynn APN 3 30611603 missense probably damaging 0.98
IGL02681:Mynn APN 3 30616642 missense probably benign 0.36
IGL03167:Mynn APN 3 30609042 missense probably damaging 1.00
PIT4494001:Mynn UTSW 3 30607722 nonsense probably null
R0049:Mynn UTSW 3 30607081 makesense probably null
R0321:Mynn UTSW 3 30607557 missense probably benign 0.01
R0420:Mynn UTSW 3 30607459 missense probably benign 0.42
R0574:Mynn UTSW 3 30616739 missense probably benign 0.01
R0576:Mynn UTSW 3 30607068 missense probably damaging 1.00
R1460:Mynn UTSW 3 30603704 missense probably damaging 0.99
R1882:Mynn UTSW 3 30616813 makesense probably null
R3115:Mynn UTSW 3 30607810 missense probably damaging 1.00
R3442:Mynn UTSW 3 30613563 missense probably damaging 0.99
R4930:Mynn UTSW 3 30607042 missense probably damaging 1.00
R5153:Mynn UTSW 3 30611589 missense probably benign 0.00
R5351:Mynn UTSW 3 30607542 missense probably benign 0.01
R7446:Mynn UTSW 3 30607052 missense probably benign 0.01
R7468:Mynn UTSW 3 30603676 missense probably damaging 1.00
R7543:Mynn UTSW 3 30607039 nonsense probably null
R8105:Mynn UTSW 3 30611479 missense possibly damaging 0.92
R8423:Mynn UTSW 3 30603784 missense probably benign 0.05
R8512:Mynn UTSW 3 30616649 missense probably damaging 0.99
Posted On2013-10-07